PISAD: reference-free intraspecies sample anomalies detection tool based on k-mer counting.

Abstract excerpt

BACKGROUND: Genomic sequencing research often requires the simultaneous analysis of heterogeneous data types across single or multiple individuals, introducing a substantial risk of sample swaps (e.g., labeling errors). Existing methods primarily rely on reference information, requiring the preselection of informative variant sites with a population allele frequency around 0.5, which may be insufficient or...

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